1 |
MEGF8 |
NM_001271938.2(MEGF8):c.5073del (p.Phe1692fs) |
DEL |
Pathogenic
|
1162320 |
|
GRCh37: 19:42862352-42862352 GRCh38: 19:42358200-42358200 |
2 |
HOXD13 |
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) |
SNV |
Pathogenic
|
374019 |
rs200750564 |
GRCh37: 2:176959246-176959246 GRCh38: 2:176094518-176094518 |
3 |
MKS1 |
NM_017777.4(MKS1):c.1166-2A>C |
SNV |
Pathogenic
|
523519 |
rs1488635637 |
GRCh37: 17:56285364-56285364 GRCh38: 17:58208003-58208003 |
4 |
MKS1 |
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp) |
SNV |
Pathogenic
|
1393 |
rs137853105 |
GRCh37: 17:56283840-56283840 GRCh38: 17:58206479-58206479 |
5 |
overlap with 668 genes |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) |
CN GAIN |
Pathogenic
|
1703544 |
|
GRCh37: 8:158048-146295771 GRCh38: |
6 |
MKS1 |
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) |
DEL |
Pathogenic
|
217677 |
rs754279998 |
GRCh37: 17:56285514-56285516 GRCh38: 17:58208153-58208155 |
7 |
overlap with 25 genes |
|
DEL |
Pathogenic
|
549857 |
|
GRCh37: 2:219925666-220914504 GRCh38: |
8 |
CC2D2A |
NM_001378615.1(CC2D2A):c.4179+1del |
DEL |
Pathogenic
|
56312 |
rs386833760 |
GRCh37: 4:15589552-15589552 GRCh38: 4:15587929-15587929 |
9 |
BRCA2 |
NM_000059.4(BRCA2):c.9235del (p.Val3079fs) |
DEL |
Pathogenic
|
38221 |
rs397507422 |
GRCh37: 13:32954261-32954261 GRCh38: 13:32380124-32380124 |
10 |
SMAD6 |
NM_005585.5(SMAD6):c.2T>C (p.Met1Thr) |
SNV |
Pathogenic
|
1174559 |
|
GRCh37: 15:66995598-66995598 GRCh38: 15:66703260-66703260 |
11 |
SMAD6 |
NM_005585.5(SMAD6):c.1227del (p.Ile410fs) |
DEL |
Pathogenic
|
1174576 |
|
GRCh37: 15:67073606-67073606 GRCh38: 15:66781268-66781268 |
12 |
ETV2 |
NM_014209.4(ETV2):c.757G>T (p.Asp253Tyr) |
SNV |
Likely Pathogenic
|
1162783 |
|
GRCh37: 19:36135178-36135178 GRCh38: 19:35644276-35644276 |
13 |
ETV2 |
NM_014209.4(ETV2):c.350del (p.Gly117fs) |
DEL |
Likely Pathogenic
|
1162784 |
|
GRCh37: 19:36134288-36134288 GRCh38: 19:35643386-35643386 |
14 |
CC2D2A |
NM_001378615.1(CC2D2A):c.1497del (p.Glu500fs) |
DEL |
Likely Pathogenic
|
1077135 |
|
GRCh37: 4:15534845-15534845 GRCh38: 4:15533222-15533222 |
15 |
MEGF8 |
NM_001271938.2(MEGF8):c.7970_7972del (p.Ser2657del) |
DEL |
Likely Pathogenic
|
1164007 |
|
GRCh37: 19:42880357-42880359 GRCh38: 19:42376205-42376207 |
16 |
CPLANE1 |
NM_001384732.1(CPLANE1):c.3707delinsTT (p.Pro1236fs) |
INDEL |
Likely Pathogenic
|
978621 |
rs1787294032 |
GRCh37: 5:37196064-37196064 GRCh38: 5:37195962-37195962 |
17 |
CPLANE1 |
NM_001384732.1(CPLANE1):c.8155_8156del (p.Ser2719fs) |
MICROSAT |
Likely Pathogenic
|
978622 |
rs1774291665 |
GRCh37: 5:37154059-37154060 GRCh38: 5:37153957-37153958 |
18 |
GLI3 |
NM_000168.6(GLI3):c.2740G>A (p.Gly914Ser) |
SNV |
Uncertain Significance
|
912024 |
rs147004305 |
GRCh37: 7:42005931-42005931 GRCh38: 7:41966333-41966333 |
19 |
GLI3 |
NM_000168.6(GLI3):c.1957C>T (p.Pro653Ser) |
SNV |
Uncertain Significance
|
912075 |
rs1787391168 |
GRCh37: 7:42012082-42012082 GRCh38: 7:41972483-41972483 |
20 |
GLI3 |
NM_000168.6(GLI3):c.*3002A>G |
SNV |
Uncertain Significance
|
910290 |
rs1484040578 |
GRCh37: 7:42000926-42000926 GRCh38: 7:41961328-41961328 |
21 |
GLI3 |
NM_000168.6(GLI3):c.*2861T>G |
SNV |
Uncertain Significance
|
910291 |
rs1787010195 |
GRCh37: 7:42001067-42001067 GRCh38: 7:41961469-41961469 |
22 |
GLI3 |
NM_000168.6(GLI3):c.*1553T>G |
SNV |
Uncertain Significance
|
910409 |
rs1787043241 |
GRCh37: 7:42002375-42002375 GRCh38: 7:41962777-41962777 |
23 |
GLI3 |
NM_000168.6(GLI3):c.*73C>T |
SNV |
Uncertain Significance
|
910584 |
rs1787093147 |
GRCh37: 7:42003855-42003855 GRCh38: 7:41964257-41964257 |
24 |
GLI3 |
NM_000168.6(GLI3):c.3786A>G (p.Pro1262=) |
SNV |
Uncertain Significance
|
910687 |
rs368450304 |
GRCh37: 7:42004885-42004885 GRCh38: 7:41965287-41965287 |
25 |
GLI3 |
NM_000168.6(GLI3):c.*2744T>G |
SNV |
Uncertain Significance
|
911505 |
rs1050141162 |
GRCh37: 7:42001184-42001184 GRCh38: 7:41961586-41961586 |
26 |
GLI3 |
NM_000168.6(GLI3):c.776C>G (p.Ala259Gly) |
SNV |
Uncertain Significance
|
910150 |
rs565817241 |
GRCh37: 7:42085033-42085033 GRCh38: 7:42045434-42045434 |
27 |
GLI3 |
NM_000168.6(GLI3):c.-78G>T |
SNV |
Uncertain Significance
|
360267 |
rs886062342 |
GRCh37: 7:42276605-42276605 GRCh38: 7:42237006-42237006 |
28 |
GLI3 |
NM_000168.6(GLI3):c.1958C>T (p.Pro653Leu) |
SNV |
Uncertain Significance
|
360240 |
rs141220299 |
GRCh37: 7:42012081-42012081 GRCh38: 7:41972482-41972482 |
29 |
GLI3 |
NM_000168.6(GLI3):c.*1471C>T |
SNV |
Uncertain Significance
|
360185 |
rs886062321 |
GRCh37: 7:42002457-42002457 GRCh38: 7:41962859-41962859 |
30 |
GLI3 |
NM_000168.6(GLI3):c.*3309C>A |
SNV |
Uncertain Significance
|
360157 |
rs553151369 |
GRCh37: 7:42000619-42000619 GRCh38: 7:41961021-41961021 |
31 |
GLI3 |
NM_000168.6(GLI3):c.*974T>A |
SNV |
Uncertain Significance
|
360199 |
rs886062328 |
GRCh37: 7:42002954-42002954 GRCh38: 7:41963356-41963356 |
32 |
GLI3 |
NM_000168.6(GLI3):c.*2676C>T |
SNV |
Uncertain Significance
|
360164 |
rs886062312 |
GRCh37: 7:42001252-42001252 GRCh38: 7:41961654-41961654 |
33 |
GLI3 |
NM_000168.6(GLI3):c.*2146_*2150del |
DEL |
Uncertain Significance
|
360176 |
rs774204684 |
GRCh37: 7:42001778-42001782 GRCh38: 7:41962180-41962184 |
34 |
GLI3 |
NM_000168.6(GLI3):c.*1027C>T |
SNV |
Uncertain Significance
|
360197 |
rs886062326 |
GRCh37: 7:42002901-42002901 GRCh38: 7:41963303-41963303 |
35 |
GLI3 |
NM_000168.6(GLI3):c.*66G>T |
SNV |
Uncertain Significance
|
360219 |
rs886062334 |
GRCh37: 7:42003862-42003862 GRCh38: 7:41964264-41964264 |
36 |
CC2D2A |
NM_001378615.1(CC2D2A):c.3341C>T (p.Thr1114Met) |
SNV |
Uncertain Significance
|
56304 |
rs386833752 |
GRCh37: 4:15569352-15569352 GRCh38: 4:15567729-15567729 |
37 |
GLI3 |
NM_000168.6(GLI3):c.1648-7T>A |
SNV |
Uncertain Significance
|
908068 |
rs1787547025 |
GRCh37: 7:42017328-42017328 GRCh38: 7:41977729-41977729 |
38 |
GLI3 |
NM_000168.6(GLI3):c.*2612A>G |
SNV |
Uncertain Significance
|
908536 |
rs1583724689 |
GRCh37: 7:42001316-42001316 GRCh38: 7:41961718-41961718 |
39 |
GLI3 |
NM_000168.6(GLI3):c.*2089G>A |
SNV |
Uncertain Significance
|
908612 |
rs865942966 |
GRCh37: 7:42001839-42001839 GRCh38: 7:41962241-41962241 |
40 |
GLI3 |
NM_000168.6(GLI3):c.*1399T>C |
SNV |
Uncertain Significance
|
908682 |
rs1160002644 |
GRCh37: 7:42002529-42002529 GRCh38: 7:41962931-41962931 |
41 |
GLI3 |
NM_000168.6(GLI3):c.*889T>C |
SNV |
Uncertain Significance
|
908742 |
rs1318388633 |
GRCh37: 7:42003039-42003039 GRCh38: 7:41963441-41963441 |
42 |
GLI3 |
NM_000168.6(GLI3):c.*386A>G |
SNV |
Uncertain Significance
|
908799 |
rs951401550 |
GRCh37: 7:42003542-42003542 GRCh38: 7:41963944-41963944 |
43 |
GLI3 |
NM_000168.6(GLI3):c.*333A>G |
SNV |
Uncertain Significance
|
908800 |
rs1787080355 |
GRCh37: 7:42003595-42003595 GRCh38: 7:41963997-41963997 |
44 |
GLI3 |
NM_000168.6(GLI3):c.*311T>A |
SNV |
Uncertain Significance
|
908802 |
rs1189349323 |
GRCh37: 7:42003617-42003617 GRCh38: 7:41964019-41964019 |
45 |
GLI3 |
NM_000168.6(GLI3):c.4627G>T (p.Ala1543Ser) |
SNV |
Uncertain Significance
|
908861 |
rs1787101579 |
GRCh37: 7:42004044-42004044 GRCh38: 7:41964446-41964446 |
46 |
GLI3 |
NM_000168.6(GLI3):c.4016G>T (p.Arg1339Leu) |
SNV |
Uncertain Significance
|
908915 |
rs756685313 |
GRCh37: 7:42004655-42004655 GRCh38: 7:41965057-41965057 |
47 |
GLI3 |
NM_000168.6(GLI3):c.3065C>T (p.Pro1022Leu) |
SNV |
Uncertain Significance
|
909046 |
rs780814828 |
GRCh37: 7:42005606-42005606 GRCh38: 7:41966008-41966008 |
48 |
GLI3 |
NM_000168.6(GLI3):c.3040G>C (p.Glu1014Gln) |
SNV |
Uncertain Significance
|
909047 |
rs373643864 |
GRCh37: 7:42005631-42005631 GRCh38: 7:41966033-41966033 |
49 |
GLI3 |
NM_000168.6(GLI3):c.21C>T (p.Ser7=) |
SNV |
Uncertain Significance
|
909185 |
rs770954230 |
GRCh37: 7:42262832-42262832 GRCh38: 7:42223233-42223233 |
50 |
GLI3 |
NM_000168.6(GLI3):c.*2517G>A |
SNV |
Uncertain Significance
|
909401 |
rs568690074 |
GRCh37: 7:42001411-42001411 GRCh38: 7:41961813-41961813 |